Property Summary

NCBI Gene PubMed Count 26
PubMed Score 31.93
PubTator Score 18.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.174 1.0e-02
malignant mesothelioma -1.600 2.9e-07
active Crohn's disease 1.275 1.9e-02
cystic fibrosis -1.200 3.9e-04
ovarian cancer -1.700 1.0e-05

Protein-protein Interaction (4)

Gene RIF (12)

PMID Text
24058506 Significant associations have been found between CpG sites and patient sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone.
23435447 These evidences were suggestive of a 46,XY DSD due to 17betaHSD3 deficiency. An homozygous mutation (IVS3 -1 G>C or c.326-1G>C) of the 17betaHSD3 gene was discovered.
22903146 HSD17B12 overexpression is shown to be a marker of poor survival in patients with ovarian cancer; expression in the tumor and function of this enzyme facilitates ovarian cancer progression.
22190034 HIV-1 Vpu is identified to have a physical interaction with hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21409596 High HSD17B12 expression is associated with neoplasms.
20677014 Observational study of gene-disease association. (HuGE Navigator)
19533843 SREBP-1 represents one of the transcriptional regulators of human 17beta-HSD12.
19460435 There is no difference in catalytic properties between variants of 17beta-HSD types 7 and 12 and wild-type enzymes, while variants p.Glu77Gly and p.Lys183Arg in 17beta-HSD type 5 showed a slightly decreased activity.
19429442 determined the activity and expression levels of known estrogenic 17beta-HSDs, namely types 1, 7 and 12 17beta-HSD in preadipocytes before and after differentiation into mature adipocytes
19190350 17beta-HSD12 is not \related to intratumoral estradiol biosynthesis in human breast carcinoma, but is correlated with production of very long chain fatty acids and tumor progresssion.
16621523 Location of 17beta-hydroxysteroid dehydrogenase type 12 through the human body.
16166196 17beta-HSD12 is the major estrogenic 17beta-HSD responsible for the conversion of E1 to E2 in women.

AA Sequence

MESALPAAGFLYWVGAGTVAYLALRISYSLFTALRVWGVGNEAGVGPGLGEWAVVTGSTDGIGKSYAEEL      1 - 70
AKHGMKVVLISRSKDKLDQVSSEIKEKFKVETRTIAVDFASEDIYDKIKTGLAGLEIGILVNNVGMSYEY     71 - 140
PEYFLDVPDLDNVIKKMININILSVCKMTQLVLPGMVERSKGAILNISSGSGMLPVPLLTIYSATKTFVD    141 - 210
FFSQCLHEEYRSKGVFVQSVLPYFVATKLAKIRKPTLDKPSPETFVKSAIKTVGLQSRTNGYLIHALMGS    211 - 280
IISNLPSWIYLKIVMNMNKSTRAHYLKKTKKN                                          281 - 312
//

Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
24929828 2014 Genome-wide association analysis identifies six new loci associated with forced vital capacity.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24169621 2014 Elucidating novel hepatitis C virus-host interactions using combined mass spectrometry and functional genomics approaches.
24058506 2013 Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.
23435447 2013 The 17?-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.
22941191 2012 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
22903146 2012 17? Hydroxysteroid dehydrogenase type 12 (HSD17B12) is a marker of poor prognosis in ovarian carcinoma.
21409596 2011 Identification of Hydroxysteroid (17?) dehydrogenase type 12 (HSD17B12) as a CD8+ T-cell-defined human tumor antigen of human carcinomas.
21269460 2011 Initial characterization of the human central proteome.
20937905 2010 ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
19533843 2009 Transcriptional regulation of 17beta-hydroxysteroid dehydrogenase type 12 by SREBP-1.
19460435 2009 Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer.
19429442 2009 Differential estrogenic 17beta-hydroxysteroid dehydrogenase activity and type 12 17beta-hydroxysteroid dehydrogenase expression levels in preadipocytes and differentiated adipocytes.
19190350 2009 17Beta-hydroxysteroid dehydrogenase type 12 in human breast carcinoma: a prognostic factor via potential regulation of fatty acid synthesis.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
16621523 2006 Systemic distribution and tissue localizations of human 17beta-hydroxysteroid dehydrogenase type 12.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16166196 2006 Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women.
16113833 2005 Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12482854 2003 Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8944226 1996 Biosynthesis of triacylglycerols.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.